Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
Journal of molecular neuroscience : MN 2017 Jan 61 (1): 8-15.
Yang Chenlong, Zhao Jizong, Wu Bingquan, Zhong Haohao, Li Yan, Xu Yul
Genetic Screening of Pediatric Cavernous Malformations.
Journal of molecular neuroscience : MN 2016 Oct 60 (2): 232-8.
Merello Elisa, Pavanello Marco, Consales Alessandro, Mascelli Samantha, Raso Alessandro, Accogli Andrea, Cama Armando, Valeria Capra, De Marco Patriz